ClinVar (all) for Orgtrack (Select 507341) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 929299	NC_000017.11:g.8173378_8173659del	LOC130060223, SNORD118 +1 more	Deletion (3 prime UTR variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929298	NC_000017.11:g.8076955_8076960del	ALOX12B, SNORD118	Deletion (intron variant)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929297	NC_000017.11:g.8076886_8076914dup	ALOX12B, SNORD118	Duplication (intron variant)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929296	NC_000017.11:g.8076912C>T	ALOX12B, SNORD118	Single nucleotide variant (intron variant)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929295	NR_033294.2(SNORD118):n.2T>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929294	NR_033294.2(SNORD118):n.3C>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929293	NR_033294.2(SNORD118):n.8G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 929292	NR_033294.2(SNORD118):n.8G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 929291	NR_033294.2(SNORD118):n.39G>T	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929290	NR_033294.2(SNORD118):n.39G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 929289	NR_033294.2(SNORD118):n.42G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 929288	NR_033294.2(SNORD118):n.56dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929287	NR_033294.2(SNORD118):n.57G>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929286	NR_033294.2(SNORD118):n.58dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929285	NR_033294.2(SNORD118):n.59T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929284	NR_033294.2(SNORD118):n.60G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929283	NR_033294.2(SNORD118):n.60_61insT	SNORD118, TMEM107	Insertion (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929282	NR_033294.2(SNORD118):n.61A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929281	NR_033294.2(SNORD118):n.64G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929280	NR_033294.2(SNORD118):n.72A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 929279	NR_033294.2(SNORD118):n.73T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929278	NR_033294.2(SNORD118):n.74G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929277	NR_033294.2(SNORD118):n.75A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929276	NR_033294.2(SNORD118):n.75A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 929275	NR_033294.2(SNORD118):n.81G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 929274	NR_033294.2(SNORD118):n.81G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929273	NR_033294.2(SNORD118):n.82A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GLikely pathogenic
Select item 929272	NR_033294.2(SNORD118):n.100T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929271	NR_033294.2(SNORD118):n.103G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929270	NR_033294.2(SNORD118):n.104G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 929269	NR_033294.2(SNORD118):n.126C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929268	NR_033294.2(SNORD118):n.127C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929267	NR_033294.2(SNORD118):n.130T>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929266	NR_033294.2(SNORD118):n.131C>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929265	NR_033294.2(SNORD118):n.131C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 929264	NC_000017.11:g.8173448G>C	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 929263	NM_183065.4(TMEM107):c.*760G>T	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 872120	NM_183065.4(TMEM107):c.*751C>T	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 812540	NM_022168.4(IFIH1):c.2866A>G (p.Ile956Val)	IFIH1 (I956V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812539	NM_022168.4(IFIH1):c.2561T>A (p.Met854Lys)	IFIH1 (M854K)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812538	NM_022168.4(IFIH1):c.2544T>G (p.Asp848Glu)	IFIH1 (D848E)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812537	NM_022168.4(IFIH1):c.2486C>G (p.Thr829Ser)	IFIH1 (T829S)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812536	NM_022168.4(IFIH1):c.2471G>A (p.Arg824Lys)	IFIH1 (R824K)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812535	NM_022168.4(IFIH1):c.2407A>T (p.Ile803Phe)	IFIH1 (I803F)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812534	NM_022168.4(IFIH1):c.2404A>G (p.Asn802Asp)	IFIH1 (N802D)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812533	NM_022168.4(IFIH1):c.2342G>A (p.Gly781Glu)	IFIH1 (G781E)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812532	NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu)	IFIH1 (R779L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 812531	NM_022168.4(IFIH1):c.2317G>C (p.Glu773Gln)	IFIH1 (E773Q)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812530	NM_022168.4(IFIH1):c.2156C>T (p.Ala719Val)	IFIH1 (A719V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812529	NM_022168.4(IFIH1):c.1747A>G (p.Ile583Val)	IFIH1 (I583V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812528	NM_022168.4(IFIH1):c.1465G>A (p.Ala489Thr)	IFIH1 (A489T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GPathogenic
Select item 812527	NM_022168.4(IFIH1):c.1347C>G (p.Asn449Lys)	IFIH1 (N449K)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812526	NM_022168.4(IFIH1):c.1331A>G (p.Glu444Gly)	IFIH1 (E444G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812525	NM_022168.4(IFIH1):c.1178A>C (p.Asp393Ala)	IFIH1 (D393A)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 812524	NM_022168.4(IFIH1):c.1165G>A (p.Gly389Arg)	IFIH1 (G389R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 812523	NM_022168.4(IFIH1):c.992C>T (p.Thr331Ile)	IFIH1 (T331I)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GPathogenic
Select item 812522	NM_022168.4(IFIH1):c.992C>G (p.Thr331Arg)	IFIH1 (T331R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GPathogenic
Select item 808225	NR_033294.2(SNORD118):n.24C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 522852	NR_033294.2(SNORD118):n.20C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GUncertain significance
Select item 522851	NR_033294.2(SNORD118):n.3C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts +1 more	GConflicting classifications of pathogenicity
Select item 265788	NM_183065.4(TMEM107):c.*759C>T	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 265787	NR_033294.2(SNORD118):n.58A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 265786	NR_033294.2(SNORD118):n.57G>A	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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Items: 63